Canonical Allele Identifier: CA287548460

Gene:

Linked Data

• dbSNP Id: rs1046073570
• gnomAD v3: 17-8137291-G-T
• gnomAD v4: 17-8137291-G-T
• MyVariant Identifiers: chr17:g.8040609G>T (hg19) ; chr17:g.8137291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137291G>T , CM000679.2:g.8137291G>T	GRCh38
NC_000017.10:g.8040609G>T , CM000679.1:g.8040609G>T	GRCh37
NC_000017.9:g.7981334G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1558G>T
XR_934203.1:n.70-2186G>T
XR_934202.2:n.414-1558G>T